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Establishment and application of a reverse dot blot assay for 13 mutations of hearing-loss genes in primary hospitals in China


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Fu Y, Zha S, Lü N, Xu H, Zhang X, Shi W, Zha J. Carrier frequencies of hearing loss variants in newborns of China: a meta-analysis. J Evid Based Med. 2019; 12:40–50. FuY ZhaS N XuH ZhangX ShiW ZhaJ Carrier frequencies of hearing loss variants in newborns of China: a meta-analysis J Evid Based Med 2019 12 40 50 Search in Google Scholar

Wang D, Zhang H, Ma H, Zhang L, Yang L, Xu L. Hearing threshold levels and hearing loss among people in Zhejiang, China: a population-based cross-sectional study. BMJ Open. 2019; 9:e027152. doi: 10.1136/bmjopen-2018-027152 WangD ZhangH MaH ZhangL YangL XuL Hearing threshold levels and hearing loss among people in Zhejiang, China: a population-based cross-sectional study BMJ Open 2019 9 e027152 10.1136/bmjopen-2018-027152 Open DOISearch in Google Scholar

Zhou Y, Tariq M, He S, Abdullah U, Zhang J, Baig SM. Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families. BMC Med Genet. 2020; 21:151. doi: 10.1186/s12881-020-01087-x ZhouY TariqM HeS AbdullahU ZhangJ BaigSM Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families BMC Med Genet 2020 21 151 10.1186/s12881-020-01087-x Open DOISearch in Google Scholar

Asian Biomed (Res Rev News) 2024; 18(1):11–17 Asian Biomed (Res Rev News) 2024 18 1 11 17 Search in Google Scholar

Li S, Peng Q, Liao S, Li W, Ma Q, Lu X. A reverse dot blot assay for the screening of twenty mutations in four genes associated with NSHL in a Chinese population. PLoS One. 2017; 12:e0177196. doi: 10.1371/journal.pone.0177196 LiS PengQ LiaoS LiW MaQ LuX A reverse dot blot assay for the screening of twenty mutations in four genes associated with NSHL in a Chinese population PLoS One 2017 12 e0177196 10.1371/journal.pone.0177196 Open DOISearch in Google Scholar

Liu XW, Wang JC, Wang SY, Li SJ, Zhu YM, Ding WJ, et al. The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China. Int J Pediatr Otorhinolaryngol. 2020; 136:110143. doi: 10.1016/j.ijporl.2020.110143 LiuXW WangJC WangSY LiSJ ZhuYM DingWJ The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China Int J Pediatr Otorhinolaryngol 2020 136 110143 10.1016/j.ijporl.2020.110143 Open DOISearch in Google Scholar

Xiong Y, Zhong M, Chen J, Yan YL, Lin XF, Li X. Effect of GJB2 235delC and 30-35delG genetic polymorphisms on risk of congenital deafness in a Chinese population. Genet Mol Res. 2017; 16. XiongY ZhongM ChenJ YanYL LinXF LiX Effect of GJB2 235delC and 30-35delG genetic polymorphisms on risk of congenital deafness in a Chinese population Genet Mol Res 2017 16 Search in Google Scholar

Jiang H, Shi X, Qiu S, Dong Y, Qiao Y, Wei D. A screening analysis of the GJB2 c.176 del 16 mutation responsible for hereditary deafness in a Chinese family. J Otol. 2016; 11:134–7. JiangH ShiX QiuS DongY QiaoY WeiD A screening analysis of the GJB2 c.176 del 16 mutation responsible for hereditary deafness in a Chinese family J Otol 2016 11 134 7 Search in Google Scholar

Wei Q, Wang S, Yao J, Lu Y, Chen Z, Xing G, Cao X. Genetic mutations of GJB2 and mitochondrial 12S rRNA in nonsyndromic hearing loss in Jiangsu Province of China. J Transl Med. 2013; 11:163. doi: 10.1186/1479-5876-11-163 WeiQ WangS YaoJ LuY ChenZ XingG CaoX Genetic mutations of GJB2 and mitochondrial 12S rRNA in nonsyndromic hearing loss in Jiangsu Province of China J Transl Med 2013 11 163 10.1186/1479-5876-11-163 Open DOISearch in Google Scholar

Zheng J, Ying Z, Cai Z, Sun D, He Z, Gao Y, et al. GJB2 Mutation spectrum and genotype-phenotype correlation in 1067 Han Chinese subjects with non-syndromic hearing loss. PLoS One. 2015; 10:e0128691. doi: 10.1371/journal.pone.0128691 ZhengJ YingZ CaiZ SunD HeZ GaoY GJB2 Mutation spectrum and genotype-phenotype correlation in 1067 Han Chinese subjects with non-syndromic hearing loss PLoS One 2015 10 e0128691 10.1371/journal.pone.0128691 Open DOISearch in Google Scholar

Guo C, Huang SS, Yuan YY, Zhou Y, Wang N, Kang DY, et al. Hearing phenotypes of patients with hearing loss homozygous for the GJB2 c.235delc mutation. Neural Plast. 2020; 2020:8841522. doi: 10.1155/2020/8841522 GuoC HuangSS YuanYY ZhouY WangN KangDY Hearing phenotypes of patients with hearing loss homozygous for the GJB2 c.235delc mutation Neural Plast 2020 2020 8841522 10.1155/2020/8841522 Open DOISearch in Google Scholar

Wu CC, Tsai CY, Lin YH, Chen PY, Lin PH, Cheng YF, et al. Genetic epidemiology and clinical features of hereditary hearing impairment in the Taiwanese population. Genes (Basel). 2019; 10:772. doi: 10.3390/genes10100772 WuCC TsaiCY LinYH ChenPY LinPH ChengYF Genetic epidemiology and clinical features of hereditary hearing impairment in the Taiwanese population Genes (Basel) 2019 10 772 10.3390/genes10100772 Open DOISearch in Google Scholar

Dai P, Yuan YY, Kang DY, Li Q, Zhu QW, Zhang X, et al. [Sequencing of SLC26A4 exons 7 and 8 and hot spot mutation analysis in 1552 moderate to profound sensorineural hearing loss patients in China]. Zhonghua Yi Xue Za Zhi. 2007; 87:2521–5. [in Chinese] DaiP YuanYY KangDY LiQ ZhuQW ZhangX [Sequencing of SLC26A4 exons 7 and 8 and hot spot mutation analysis in 1552 moderate to profound sensorineural hearing loss patients in China] Zhonghua Yi Xue Za Zhi 2007 87 2521 5 [in Chinese] Search in Google Scholar

Guo YF, Liu XW, Guan J, Han MK, Wang DY, Zhao YL, et al. GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects. Acta Otolaryngol. 2008; 128:297–303. GuoYF LiuXW GuanJ HanMK WangDY ZhaoYL GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects Acta Otolaryngol 2008 128 297 303 Search in Google Scholar

Ibekwe TS, Bhimrao SK, Westerberg BD, Kozak FK. A meta-analysis and systematic review of the prevalence of mitochondrially encoded 12S RNA in the general population: is there a role for screening neonates requiring aminoglycosides? Afr J Paediatr Surg. 2015; 12:105–13. IbekweTS BhimraoSK WesterbergBD KozakFK A meta-analysis and systematic review of the prevalence of mitochondrially encoded 12S RNA in the general population: is there a role for screening neonates requiring aminoglycosides? Afr J Paediatr Surg. 2015 12 105 13 Search in Google Scholar

Zheng J, Bai X, Xiao Y, Ji Y, Meng F, Aishanjiang M, et al. Mitochondrial tRNA mutations in 887 Chinese subjects with hearing loss. Mitochondrion. 2020; 52:163–72. ZhengJ BaiX XiaoY JiY MengF AishanjiangM Mitochondrial tRNA mutations in 887 Chinese subjects with hearing loss Mitochondrion 2020 52 163 72 Search in Google Scholar

Xia JH, Liu CY, Tang BS, Pan Q, Huang L, Dai HP, et al. Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Nat Genet. 1998; 20:370–3. XiaJH LiuCY TangBS PanQ HuangL DaiHP Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment Nat Genet 1998 20 370 3 Search in Google Scholar

Huang S, Huang B, Wang G, Kang DY, Zhang X, Meng X, Dai P. The relationship between the GJB3 c.538C>T variant and hearing phenotype in the Chinese population. Int J Pediatr Otorhinolaryngol. 2017; 102:67–70. HuangS HuangB WangG KangDY ZhangX MengX DaiP The relationship between the GJB3 c.538C>T variant and hearing phenotype in the Chinese population Int J Pediatr Otorhinolaryngol 2017 102 67 70 Search in Google Scholar

Korver AMH, Smith RJH, Van Camp GV, Schleiss MR, Bitner-Glindzicz MAK, Lustig LR, et al. Congenital hearing loss. Nat Rev Dis Primers. 2017; 3:16094. doi: 10.1038/nrdp.2016.94. KorverAMH SmithRJH Van CampGV SchleissMR Bitner-GlindziczMAK LustigLR Congenital hearing loss Nat Rev Dis Primers 2017 3 16094 10.1038/nrdp.2016.94 Open DOISearch in Google Scholar

Pandya A, Xia X, Radnaabazar J, Batsuuri J, Dangaansuren B, Fischel-Ghodsian N, Nance WE. Mutation in the mitochondrial 12S rRNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity. J Med Genet. 1997; 34:169–72. PandyaA XiaX RadnaabazarJ BatsuuriJ DangaansurenB Fischel-GhodsianN NanceWE Mutation in the mitochondrial 12S rRNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity J Med Genet 1997 34 169 72 Search in Google Scholar

Huang S, Xu Y, Liu X, Zhou M, Wu X, Jia Y. Molecular newborn screening of four genetic diseases in Guizhou Province of South China. Gene. 2016; 591:119–22. HuangS XuY LiuX ZhouM WuX JiaY Molecular newborn screening of four genetic diseases in Guizhou Province of South China Gene 2016 591 119 22 Search in Google Scholar

Lin M, Zhu JJ, Wang Q, Xie LX, Lu M, Wang JL, et al. Development and evaluation of a reverse dot blot assay for the simultaneous detection of common alpha and beta thalassemia in Chinese. Blood Cells Mol Dis. 2012; 48:86–90. LinM ZhuJJ WangQ XieLX LuM WangJL Development and evaluation of a reverse dot blot assay for the simultaneous detection of common alpha and beta thalassemia in Chinese Blood Cells Mol Dis 2012 48 86 90 Search in Google Scholar

Liu SS, Leung RCY, Chan KKL, Cheung ANY, Ngan HYS. Evaluation of a newly developed GenoArray human papillomavirus (HPV) genotyping assay and comparison with the Roche Linear Array HPV genotyping assay. J Clin Microbiol. 2010; 48:758–64. LiuSS LeungRCY ChanKKL CheungANY NganHYS Evaluation of a newly developed GenoArray human papillomavirus (HPV) genotyping assay and comparison with the Roche Linear Array HPV genotyping assay J Clin Microbiol 2010 48 758 64 Search in Google Scholar

Lin M, Wang Q, Zheng L, Huang Y, Lin F, Lin CP, Yang LY. Prevalence and molecular characterization of abnormal hemoglobin in eastern Guangdong of southern China. Clin Genet. 2012; 81:165–71. LinM WangQ ZhengL HuangY LinF LinCP YangLY Prevalence and molecular characterization of abnormal hemoglobin in eastern Guangdong of southern China Clin Genet 2012 81 165 71 Search in Google Scholar

Yang T, Guo L, Wang L, Yu X. Diagnosis, intervention, and prevention of genetic hearing loss. Adv Exp Med Biol. 2019; 1130:73–92. YangT GuoL WangL YuX Diagnosis, intervention, and prevention of genetic hearing loss Adv Exp Med Biol 2019 1130 73 92 Search in Google Scholar

Wang C, Wang S, Chen H, Lu D. Establishment of a gene detection system for hotspot mutations of hearing loss. Biomed Res Int. 2018; 2018:6828306. doi: 10.1155/2018/6828306 WangC WangS ChenH LuD Establishment of a gene detection system for hotspot mutations of hearing loss Biomed Res Int 2018 2018 6828306 10.1155/2018/6828306 Open DOISearch in Google Scholar

Han GY, Xu Z, Li QS, Shen HY, Zhang W, Liang J. Detection of hereditary hearing loss gene by DNA microarray. Eur Rev Med Pharmacol Sci. 2017; 21:3538–42. HanGY XuZ LiQS ShenHY ZhangW LiangJ Detection of hereditary hearing loss gene by DNA microarray Eur Rev Med Pharmacol Sci 2017 21 3538 42 Search in Google Scholar

Han B, Zong L, Li Q, Zhang Z, Wang D, Lan L, et al. Newborn genetic screening for high risk deafness-associated mutations with a new Tetra-primer ARMS PCR kit. Int J Pediatr Otorhinolaryngol. 2013; 77:1440–5. HanB ZongL LiQ ZhangZ WangD LanL Newborn genetic screening for high risk deafness-associated mutations with a new Tetra-primer ARMS PCR kit Int J Pediatr Otorhinolaryngol 2013 77 1440 5 Search in Google Scholar

Zhou J, Hertz JM, Tryggvason K. Mutation in the alpha 5(IV) collagen chain in juvenile-onset Alport syndrome without hearing loss or ocular lesions: detection by denaturing gradient gel electrophoresis of a PCR product. Am J Hum Genet. 1992; 50:1291–300. ZhouJ HertzJM TryggvasonK Mutation in the alpha 5(IV) collagen chain in juvenile-onset Alport syndrome without hearing loss or ocular lesions: detection by denaturing gradient gel electrophoresis of a PCR product Am J Hum Genet 1992 50 1291 300 Search in Google Scholar

Antoniadi T, Grønskov K, Sand A, Pampanos A, Brøndum-Nielsen K, Petersen MB. Mutation analysis of the GJB2 (connexin 26) gene by DGGE in Greek patients with sensorineural deafness. Hum Mutat. 2000; 16:7–12. AntoniadiT GrønskovK SandA PampanosA Brøndum-NielsenK PetersenMB Mutation analysis of the GJB2 (connexin 26) gene by DGGE in Greek patients with sensorineural deafness Hum Mutat 2000 16 7 12 Search in Google Scholar

Lin D, Goldstein JA, Mhatre AN, Lustig LR, Pfister M, Lalwani AK. Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2). Hum Mutat. 2001; 18:42–51. LinD GoldsteinJA MhatreAN LustigLR PfisterM LalwaniAK Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2) Hum Mutat 2001 18 42 51 Search in Google Scholar

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